Two types of tests are available to diagnose Fragile X Syndrome and to test for female carriers. The chromosome test is one. The other is DNA testing which is more accurate and less expensive. Testing is recommended for:
- Any person with developmental delay, autism, or mental retardation who has:
- any of the physical features or behaviors that are typical in Fragile X,
- a family history or Fragile X,
- any relatives with undiagnosed mental retardation.
- Women who have a family history of Fragile X or of undiagnosed mental retardation and who are seeking reproductive counseling should be tested to see if they are carriers.
- Prenatal testing is possible for fetuses (babies). Pregnant mothers who are known carriers should have their fetuses tested.